Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 6

Results: 11

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3

By:

MacFarlane, John R.;
Du, Jian-Sheng;
Pepys, Miriam E.;
Ramsden, Simon;
Donnai, Dian;
Charlton, Ruth;
Garrett, Christine;
Tolmie, John;
Yates, John R. W.;
Berry, Caroline;
Goudie, David;
Moncla, Anne;
Lunt, Peter;
Hodgson, Shirley;
Jouet, Monique;
Kenwrick, Susan

Publication type:

Article

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 537, doi. 10.1002/(SICI)1098-1004(1997)9:6<537::AID-HUMU7>3.0.CO;2-Z

By:

Todorova, Albena;
Danieli, Gian Antonio

Publication type:

Article

An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 567, doi. 10.1002/(SICI)1098-1004(1997)9:6<567::AID-HUMU11>3.0.CO;2-0

By:

Berx, G;
Nollet, F;
Strumane, K;
van Roy, F

Publication type:

Article

Mutations in the adrenoleukodystrophy gene.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 500, doi. 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5

By:

Dodd, Andrew;
Rowland, Shelley A.;
Hawkes, Sheryl L. J.;
Kennedy, Martin A.;
Love, Donald R.

Publication type:

Article

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 548, doi. 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y

By:

Abernathy, Corinne R.;
Rasmussen, Sonja A.;
Stalker, Heather J.;
Zori, Roberto;
Driscoll, Daniel J.;
Williams, Charles A.;
Kousseff, Boris G.;
Wallace, Margaret R.

Publication type:

Article

Screening for ESR mutations in breast and ovarian cancer patients.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 531, doi. 10.1002/(SICI)1098-1004(1997)9:6<531::AID-HUMU6>3.0.CO;2-4

By:

Andersen, Tone Ikdahl;
Wooster, Richard;
Laake, Kirsten;
Collins, Nadine;
Warren, William;
Skrede, Martina;
Eeles, Rose;
Tveit, Kjell M.;
Johnston, Stephen R. D.;
Dowsett, Mitchell;
Olsen, Anne O.;
Møller, Pål;
Stratton, Mike R.;
Børresen-Dale, Anne-Lise

Publication type:

Article

The clinical spectrum of type IV collagen mutations.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 477, doi. 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#

By:

Lemmink, Henny H.;
Schröder, Cornelis H.;
Monnens, Leo A. H.;
Smeets, Huber J. M.

Publication type:

Article

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 526, doi. 10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0.CO;2-#

By:

Wulff, Karin;
Parrish, Julia E.;
Herrmann, Falko H.;
Wehnert, Manfred

Publication type:

Article

Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 555, doi. 10.1002/(SICI)1098-1004(1997)9:6<555::AID-HUMU9>3.0.CO;2-0

By:

Assouline, Linda;
Leitersdorf, Eran;
Lambert, Marie;
Reshef, Ayeleth;
Feoli-Fonseca, Juan C.;
Levy, Emile

Publication type:

Article

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 519, doi. 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X

By:

Takayama, Kyoko;
Danks, David M.;
Salazar, Edmund P.;
Cleaver, James E.;
Weber, Christine A.

Publication type:

Article

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.

Published in:

Human Mutation, 1997, v. 9, n. 6, p. 563, doi. 10.1002/(SICI)1098-1004(1997)9:6<563::AID-HUMU10>3.0.CO;2-0

By:

Ikegami, Tohru;
Ikeda, Hiroyuki;
Chance, Phillip F.;
Kiyosawa, Hidenori;
Yamamoto, Masahiko;
Sobue, Gen;
Ohnishi, Akio;
Tachi, Nobutada;
Hayasaka, Kiyoshi

Publication type:

Article